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Items: 1 to 100 of 867

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACER2, ACO1
+1005 more
Copy number gain
See cases
GPathogenic
LOC130001537, LOC130001538
+3785 more
Copy number gain
See cases
GPathogenic
LOC132089671, LOC132089672
+1213 more
Copy number gain
See cases
GPathogenic
LOC130002976, LOC130002977
+3784 more
Copy number gain
See cases
GPathogenic
LOC130001468, LOC130001469
+3785 more
Copy number gain
See cases
GPathogenic
DNAJB5, DNAJB5-DT
+3785 more
Copy number gain
See cases
GPathogenic
HRCT1, IFNA1
+1061 more
Copy number gain
See cases
GPathogenic
ABHD17B, ACER2
+1119 more
Copy number gain
See cases
GPathogenic
LOC114827838, LOC116186936
+3785 more
Copy number gain
See cases
GPathogenic
LOC124252641, LOC124252642
+3785 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+882 more
Copy number gain
See cases
GPathogenic
LINC03026, LINC03041
+1366 more
Copy number gain
See cases
GPathogenic
LOC114022701, LOC114022702
+3785 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3785 more
Copy number gain
See cases
GPathogenic
LOC130001672, LOC130001673
+983 more
Copy number gain
See cases
GPathogenic
DMAC1, DMRT1
+898 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+979 more
Copy number gain
See cases
GPathogenic
LINC03041, LINC03106
+898 more
Copy number gain
See cases
GPathogenic
LOC110120726, LOC110120727
+3785 more
Copy number gain
See cases
GPathogenic
LOC126860576, LOC126860577
+897 more
Copy number gain
See cases
GPathogenic
LOC130001469, LOC130001470
+898 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+893 more
Copy number gain
See cases
GPathogenic
ERVFRD-3, FAM219A
+585 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+690 more
Copy number gain
See cases
GPathogenic
LOC126860615, LOC126860616
+435 more
Copy number gain
See cases
GLikely pathogenic
LOC130001735, LOC130001736
+503 more
Copy number gain
See cases
GPathogenic
ALDH1B1, ANKRD18B
+360 more
Copy number gain
See cases
GPathogenic
ANKRD18B, ARID3C
+71 more
Copy number gain
not specified
GUncertain significance
PTENP1-AS, RECK
+211 more
Copy number loss
See cases
GPathogenic
GALT, IL11RA
+4 more
Deletion
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GPathogenic
LOC129662434, LOC130001682
+138 more
Duplication
Anauxetic dysplasia
GUncertain significance
GALT, LOC130001682
+1 more
Deletion
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GPathogenic
GALT, LOC130001682
+1 more
Deletion
Not Specified
Gno classification for the single variant
Sno classification for the single variant
Ono classification for the single variant
GALT, LOC130001682
+1 more
Deletion
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GPathogenic
GALT
Duplication
not specified
GBenign
GALT
Duplication
not specified
GBenign
GALT
Deletion
not specified
GBenign
GALT
Duplication
not specified
GBenign
GALT
Duplication
not specified
GBenign
GALT
Duplication
not specified
GBenign
GALT
Duplication
not specified
GBenign
GALT
Duplication
not specified
GBenign
GALT
Duplication
not specified
GBenign
GALT
Duplication
not specified
GBenign
GALT
Deletion
not specified
GUncertain significance
GALT
Deletion
not specified
GBenign
GALT
Single nucleotide variant
not specified
GUncertain significance
GALT
Microsatellite
not specified
GBenign
GALT
Single nucleotide variant
not specified
GUncertain significance
GALT
Single nucleotide variant
not provided
GLikely benign
GALT, LOC130001682
Single nucleotide variant
not specified
GUncertain significance
GALT
Microsatellite
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GUncertain significance
GALT
Microsatellite
not provided
+3 more
GConflicting classifications of pathogenicity; other
GALT
Single nucleotide variant
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GUncertain significance
GALT
Single nucleotide variant
not specified
+1 more
GUncertain significance
GALT, LOC130001683
Deletion
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GPathogenic
GALT, LOC130001683
Deletion
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GPathogenic
GALT
Single nucleotide variant
not specified
+1 more
GUncertain significance
GALT
Single nucleotide variant
GALT-related condition
+1 more
GConflicting classifications of pathogenicity
GALT
Single nucleotide variant
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GUncertain significance
GALT
Single nucleotide variant
(5 prime UTR variant)
Galactosemia
GUncertain significance
GALT
(M1L)
Single nucleotide variant
(missense variant +2 more)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GPathogenic
GALT
Single nucleotide variant
(missense variant +2 more)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GPathogenic
GALT
(M1R)
Single nucleotide variant
(missense variant +2 more)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GPathogenic
GALT
(M1T)
Single nucleotide variant
(missense variant +2 more)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GPathogenic/Likely pathogenic
GALT
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
(Q9fs)
Duplication
(5 prime UTR variant +1 more)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely pathogenic
GALT
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
(D7fs)
Deletion
(frameshift variant +1 more)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GPathogenic/Likely pathogenic
GALT
Single nucleotide variant
(5 prime UTR variant +1 more)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
(D7Y)
Single nucleotide variant
(missense variant +1 more)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GUncertain significance
GALT
(D7fs)
Deletion
(frameshift variant +1 more)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely pathogenic
GALT
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
(Q9*)
Single nucleotide variant
(nonsense +1 more)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely pathogenic
GALT
Single nucleotide variant
(missense variant +1 more)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GUncertain significance
GALT
(Q10fs)
Indel
(frameshift variant +1 more)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely pathogenic
GALT
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
(R11G)
Single nucleotide variant
(5 prime UTR variant +1 more)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GUncertain significance
GALT
(R11H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
GALT
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
(Q13*)
Single nucleotide variant
(nonsense +1 more)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely pathogenic
GALT
(A14T)
Single nucleotide variant
(missense variant +1 more)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GUncertain significance
GALT
(A14fs)
Insertion
(frameshift variant +1 more)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GPathogenic
GALT
(A14fs)
Indel
(frameshift variant +1 more)
GALT-related condition
+2 more
GPathogenic/Likely pathogenic
GALT
(S15L)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
GALT
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
(A19P)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GALT
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
(T23N)
Single nucleotide variant
(missense variant +1 more)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GUncertain significance
GALT
(F24fs)
Insertion
(frameshift variant +1 more)
not provided
GPathogenic
GALT
(R25P)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GALT
(D28N)
Single nucleotide variant
(missense variant +1 more)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GUncertain significance
GALT
Single nucleotide variant
(splice donor variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GPathogenic
GALT
Deletion
(splice donor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
GALT
Single nucleotide variant
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
Single nucleotide variant
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
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